SRPRA

SRP receptor subunit alpha

Basic information

Region (hg38): 11:126262938-126269144

Previous symbols: [ "SRPR" ]

Links

ENSG00000182934 ∙ NCBI:6734 ∙ OMIM:182180 ∙ HGNC:11307 ∙ Uniprot:P08240 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRPRA gene.

• not_provided (7 variants)
• SRPRA-related_disorder (7 variants)
• not_specified (5 variants)
• Shwachman-Diamond_syndrome_1 (1 variants)
• Severe_congenital_neutropenia (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRPRA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003139.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense	1		10		1	12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	1	0	11	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRPRA	protein_coding	protein_coding	ENST00000332118	14	6226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.778	0.222	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	329	394	0.835	0.0000236	4194
Missense in Polyphen		125	183.72	0.68039		1923
Synonymous	-0.681	151	141	1.07	0.00000766	1271
Loss of Function	3.92	5	27.0	0.185	0.00000121	342

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000203	0.000203
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000884	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system.
• Pathway: Protein export - Homo sapiens (human);XBP1(S) activates chaperone genes;SRP-dependent cotranslational protein targeting to membrane;Translation;Metabolism of proteins (Consensus)

Recessive Scores

• pRec: 0.160

Intolerance Scores

• rvis_EVS: -0.89
• rvis_percentile_EVS: 10.43

Haploinsufficiency Scores

• pHI: 0.638
• hipred: Y
• hipred_score: 0.711
• ghis: 0.574

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Srpr

Gene ontology

• Biological process: protein targeting;cotranslational protein targeting to membrane;SRP-dependent cotranslational protein targeting to membrane;IRE1-mediated unfolded protein response;protein targeting to ER
• Cellular component: signal recognition particle receptor complex;endoplasmic reticulum membrane;membrane;extracellular exosome
• Molecular function: RNA binding;GTPase activity;signal recognition particle binding;GTP binding